Canonical Allele Identifier: CA2246174861
Community Standard Title: NM_002616.3(PER1):c.2218+291C=
Gene: PER1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8145667G= , CM000679.2:g.8145667G= GRCh38
NC_000017.10:g.8048985G= , CM000679.1:g.8048985G= GRCh37
NC_000017.9:g.7989710G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002616.3:c.2218+291C= MANE Select NP_002607.2:n.2218+291C=
ENST00000317276.9:c.2218+291C= MANE Select ENSP00000314420.4:n.2218+291C=
NM_002616.2:c.2218+291C= NP_002607.2:n.2218+291C=
ENST00000317276.8:c.2218+291C= ENSP00000314420.4:n.2218+291C=
ENST00000354903.9:c.2170+291C= ENSP00000346979.5:n.2170+291C=
ENST00000578089.1:n.297+291C=
ENST00000581082.5:c.2158+291C= ENSP00000462064.1:n.2158+291C=
ENST00000581395.5:c.*214-674C= ENSP00000464696.1:n.*214-674C=
ENST00000582719.5:c.2218+291C= ENSP00000463054.1:n.2218+291C=
ENST00000583559.1:c.67+291C= ENSP00000463369.1:n.67+291C=
XM_005256689.1:c.2218+291C= XP_005256746.1:n.2218+291C=
XM_005256689.2:c.2218+291C= XP_005256746.1:n.2218+291C=
XM_005256690.1:c.2039-674C= XP_005256747.1:n.2039-674C=
XM_024450803.1:c.2039-674C= XP_024306571.1:n.2039-674C=